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Article

Association of Epidermolysis Bullosa Simplex With Mottled Pigmentation and EXPH5 Mutations.

JAMA dermatology - 1 Oct 2016

Turcan Iana, Pasmooij Anna M G, Van den Akker Peter C, Lemmink Henny, Sinke Richard J, Jonkman Marcel F

Abstract excerpt

Importance: Epidermolysis bullosa simplex (EBS) is a group of clinically and genetically diverse mechanobullous genodermatoses characterized by the fragility of skin and mucous membranes. Recently, mutations in EXPH5 encoding exophilin-5 (also known as Slac2-b, an effector protein involved in intracellular vesicle trafficking and exosome secretion) have been implicated in the pathophysiology of EBS. Herein, we...

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Source

Identifiers

PMID: 27384765
DOI: 10.1001/jamadermatol.2016.2268

Genes

EXPH5

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A mutation in the V1 domain of keratin 5 causes epidermolysis bullosa simplex with mottled pigmentation.Semantic proximity Read ↗

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